(Q34087624)

English

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Hossein Najmabadi

18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Asif Mir

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Liana Kaufman

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Abdul Noor

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Mahdi M Motazacker

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Talal Jamil

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Matloob Azam

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Muhammad Arshad Rafiq

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Rosanna Weksberg

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Tanveer Nasr

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Farooq Naeem

11

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Andreas Tzschach

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Andreas W Kuss

13

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Gisele E Ishak

14

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Dan Doherty

15

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

H Hilger Ropers

16

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A James Barkovich

17

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Muhammad Ayub

19

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

John B Vincent

20

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

language of work or name

0 references

publication date

1 December 2009

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

85

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

909-915

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

XLMR genes: update 2007.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Celsius: a community resource for Affymetrix microarray data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Conservation of the TRAPPII-specific subunits of a Ypt/Rab exchanger complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Mutants in trs120 disrupt traffic from the early endosome to the late Golgi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Science and society: genetic counselling and customary consanguineous marriage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Synbindin, A novel syndecan-2-binding protein in neuronal dendritic spines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Identification and characterization of five new subunits of TRAPP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

The Portage Project: a model for early childhood education.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Head circumference reference data: birth to 18 years.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

5 July 2018

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

28 October 2018

X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

28 October 2018

Head circumference from birth to eighteen years. Practical composite international and interracial graphs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790571

28 October 2018

Identifiers

10.1016/J.AJHG.2009.11.009

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20004765%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34087624&oldid=1984521503"